Systematic reanalysis of next-generation sequencing data in 101 neuromuscular disorder families enhances diagnostic yield, reveals intronic variants, and identifies a novel disease gene.

Published 07/20/2026

Research record: Systematic reanalysis of next-generation sequencing data in 101 neuromuscular disorder families enhances diagnostic yield, reveals intronic variants, and identifies a novel disease gene.

Published in J Neurol; first publication date 2026-07-20. PMID 42474733.

This literature update records publication metadata from Europe PMC. Consult the original publication for its methods, findings and limitations.

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Source

Compiled from public manufacturer materials and regulatory sources. Not independently verified and not reviewed by a named clinician.

Published

2026-07-20

Updated

2026-10-20

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